Variant Details for FAT4
Basic Information Top
| Gene Symbol: | FAT4 ( CDHF14,CDHR11,FAT-J,FATJ,FLJ23056,FLJ77878,NBLA00548 ) |
|---|---|
| Gene Full Name: | FAT tumor suppressor homolog 4 (Drosophila) |
| Band: | 4q28.1 |
| Quick Links | Entrez ID:79633; OMIM: 612411; Uniprot ID:FAT4_HUMAN; ENSEMBL ID: ENSG00000196159; HGNC ID: 23109 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 0 | 4 | 0 | 2 | 0 | 1 | 7 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| No related data! | ||||||||
NGS de novo Mutations TopiFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.
| Chr | Pos | Ref | Alt | Coding | AA | Validated Method | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 126240148 | T | A | Sanger sequencing | neutral | 0.4875 | De Rubeis S, 2014 | ||
| 4 | 126336650 | G | A | Sanger sequencing | neutral | 0.4875 | De Rubeis S, 2014 | ||
| 4 | 126411350 | C | T | Sanger sequencing | neutral | 0.4875 | De Rubeis S, 2014 | ||
| 4 | 126411443 | G | A | PCR or Sanger sequencing | deleterious | 0.5125 | Iossifov I, 2014 |
NGS Mosaic Mutations Top| Chr | Position | Ref | Alt | Genotype | Validated Method | Reference |
|---|---|---|---|---|---|---|
| No related data! | ||||||
NGS Other Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 4 | 126320038 | A | G | c.A5275G | p.I1759V | neutral | 0.4875 | Tammimies K, 2015 | |
| 4 | 126373570 | C | T | Y | Cukier HN, 2014 |
Low-Scale Gene Mutations Top| Chr | Pos | Ref | Alt | Coding | AA | Validated | iFish Prediction | iFish Probability | Reference |
|---|---|---|---|---|---|---|---|---|---|
| No related data! | |||||||||
Linkage Regions Top| Linkage Name | Band | Chr | Marker | LOD | NPL | P Value | Reference |
|---|---|---|---|---|---|---|---|
| AutLD0000085 | 4q28.1 | 4 | D4S3250 | - | 2.65 | - | Buxbaum, 2004 |